Mutation details:

Protein level identifier (n.a.):

p.Gln797*

cDNA level identifier (n.a.):

c.2389C>T

Gene level identifier:

g.79908C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38508200 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

42

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 compound heterozygous (3 in total).